Canonical Allele Identifier: CA2654792197
Gene: AIRE HGNC NCBI

Linked Data

gnomAD v4: 21-44289861-GC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.44289862del , CM000683.2:g.44289862del GRCh38
NC_000021.8:g.45709745del , CM000683.1:g.45709745del GRCh37
NC_000021.7:g.44534173del NCBI36
NG_009556.1:g.8983del , LRG_18:g.8983del

Transcript Alleles

HGVS Amino-acid Change
ENST00000291582.6:c.798+60del MANE Select ENSP00000291582.5:n.798+60del
ENST00000291582.5:c.798+60del ENSP00000291582.5:n.798+60del
ENST00000527919.5:n.1531+60del
ENST00000530812.5:n.2548+60del
NM_000383.3:c.798+60del NP_000374.1:n.798+60del
XM_011529551.1:c.798+60del XP_011527853.1:n.798+60del
NM_000383.4:c.798+60del MANE Select NP_000374.1:n.798+60del
Search 100 bp 5'
Search 100 bp 3'